472 related articles for article (PubMed ID: 11261429)
1. The molecular biology of galactosemia.
Elsas LJ; Lai K
Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429
[TBL] [Abstract][Full Text] [Related]
2. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
[TBL] [Abstract][Full Text] [Related]
3. Galactosemia: when is it a newborn screening emergency?
Berry GT
Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
[TBL] [Abstract][Full Text] [Related]
4. Molecular basis for Duarte and Los Angeles variant galactosemia.
Langley SD; Lai K; Dembure PP; Hjelm LN; Elsas LJ
Am J Hum Genet; 1997 Feb; 60(2):366-72. PubMed ID: 9012409
[TBL] [Abstract][Full Text] [Related]
5. Detection of common mutations in the GALT gene through ARMS.
Mahmood U; Imran M; Naik SI; Cheema HA; Saeed A; Arshad M; Mahmood S
Gene; 2012 Nov; 509(2):291-4. PubMed ID: 22963887
[TBL] [Abstract][Full Text] [Related]
6. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT; Singh RH; Mazur AT; Guerrero N; Kennedy MJ; Chen J; Reynolds R; Palmieri MJ; Klein PD; Segal S; Elsas LJ
Pediatr Res; 2000 Sep; 48(3):323-8. PubMed ID: 10960497
[TBL] [Abstract][Full Text] [Related]
7. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
Singh R; Thapa BR; Kaur G; Prasad R
Biochem Genet; 2012 Dec; 50(11-12):871-80. PubMed ID: 22798028
[TBL] [Abstract][Full Text] [Related]
8. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W
Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760
[TBL] [Abstract][Full Text] [Related]
9. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Schuster V; Podskarbi T; Ottensmeier H; Haubner M; Shin YS
J Mol Med (Berl); 1998 Sep; 76(10):715-9. PubMed ID: 9766850
[TBL] [Abstract][Full Text] [Related]
10. A prevalent mutation for galactosemia among black Americans.
Lai K; Langley SD; Singh RH; Dembure PP; Hjelm LN; Elsas LJ
J Pediatr; 1996 Jan; 128(1):89-95. PubMed ID: 8551426
[TBL] [Abstract][Full Text] [Related]
11. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
Seyrantepe V; Ozguc M; Coskun T; Ozalp I; Reichardt JK
Hum Mutat; 1999; 13(4):339. PubMed ID: 10220154
[TBL] [Abstract][Full Text] [Related]
12. A molecular approach to galactosemia.
Elsas LJ; Langley S; Paulk EM; Hjelm LN; Dembure PP
Eur J Pediatr; 1995; 154(7 Suppl 2):S21-7. PubMed ID: 7671959
[TBL] [Abstract][Full Text] [Related]
13. Prevention of a molecular misdiagnosis in galactosemia.
Barbouth D; Slepak T; Klapper H; Lai K; Elsas LJ
Genet Med; 2006 Mar; 8(3):178-82. PubMed ID: 16540753
[TBL] [Abstract][Full Text] [Related]
14. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin HC; Kirby LT; Ng WG; Reichardt JK
Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740
[TBL] [Abstract][Full Text] [Related]
15. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E; Marabotti A; Burlina AP; Cazzorla C; D'Apice MR; Giordano L; Fasan I; Novelli G; Facchiano A; Burlina AB
Gene; 2015 Apr; 559(2):112-8. PubMed ID: 25592817
[TBL] [Abstract][Full Text] [Related]
16. Molecular characterization of galactosemia (type 1) mutations in Japanese.
Ashino J; Okano Y; Suyama I; Yamazaki T; Yoshino M; Furuyama J; Lin HC; Reichardt JK; Isshiki G
Hum Mutat; 1995; 6(1):36-43. PubMed ID: 7550229
[TBL] [Abstract][Full Text] [Related]
17. Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
Lukac-Bajalo J; Marc J; Mlinar B; Karas N; Krzisnik C; Battelino T
Clin Chem Lab Med; 2002 Nov; 40(11):1109-13. PubMed ID: 12521227
[TBL] [Abstract][Full Text] [Related]
18. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
Suzuki M; West C; Beutler E
Hum Genet; 2001 Aug; 109(2):210-5. PubMed ID: 11511927
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Kozák L; Francová H; Fajkusová L; Pijácková A; Macku J; Stastná S; Peskovová K; Martincová O; Krijt J; Bzdúch V
Hum Mutat; 2000 Feb; 15(2):206. PubMed ID: 10649501
[TBL] [Abstract][Full Text] [Related]
20. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
Elsas LJ; Langley S; Steele E; Evinger J; Fridovich-Keil JL; Brown A; Singh R; Fernhoff P; Hjelm LN; Dembure PP
Am J Hum Genet; 1995 Mar; 56(3):630-9. PubMed ID: 7887416
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
